Genetics of idiopathic pulmonary fibrosis: from mechanistic pathways to personalised medicine

JOURNAL ARTICLE published February 2017 in Journal of Medical Genetics

Authors: Paolo Spagnolo | Vincent Cottin

Congenital mirror movements are associated with defective polymerisation of RAD51

JOURNAL ARTICLE published November 2023 in Journal of Medical Genetics

Research funded by within the framework of LabEx LIFESENSES (ANR-10-LABX-65) | Agence Nationale de la Recherche (ANR-14-CE13-0004-01,ANR-18-CE16-0005-02) | French state funds managed by the ANR within the Investissements d’Avenir program (ANR-11-IDEX-0004-02) | National Institute on Deafness and Other Communication Disorders (R01-DC-017989)

Authors: Oriane Trouillard | Pauline Dupaigne | Margaux Dunoyer | Mohamed Doulazmi | Morten Krogh Herlin | Solène Frismand | Audrey Riou | Véronique Legros | Guillaume Chevreux | Xavier Veaute | Didier Busso | Coralie Fouquet | Cécile Saint-Martin | Aurélie Méneret | Alain Trembleau | Isabelle Dusart | Caroline Dubacq | Emmanuel Roze

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

JOURNAL ARTICLE published April 2017 in Journal of Medical Genetics

Authors: Derralynn A Hughes | Kathleen Nicholls | Suma P Shankar | Gere Sunder-Plassmann | David Koeller | Khan Nedd | Gerard Vockley | Takashi Hamazaki | Robin Lachmann | Toya Ohashi | Iacopo Olivotto | Norio Sakai | Patrick Deegan | David Dimmock | François Eyskens | Dominique P Germain | Ozlem Goker-Alpan | Eric Hachulla | Ana Jovanovic | Charles M Lourenco | Ichiei Narita | Mark Thomas | William R Wilcox | Daniel G Bichet | Raphael Schiffmann | Elizabeth Ludington | Christopher Viereck | John Kirk | Julie Yu | Franklin Johnson | Pol Boudes | Elfrida R Benjamin | David J Lockhart | Carrolee Barlow | Nina Skuban | Jeffrey P Castelli | Jay Barth | Ulla Feldt-Rasmussen

De novoand rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

JOURNAL ARTICLE published November 2014 in Journal of Medical Genetics

Authors: Christian Babbs | Deborah Lloyd | Alistair T Pagnamenta | Stephen R F Twigg | Joanne Green | Simon J McGowan | Ghazala Mirza | Rebecca Naples | Vikram P Sharma | Emanuela V Volpi | Veronica J Buckle | Steven A Wall | Samantha J L Knight | Jeremy R Parr | Andrew O M Wilkie | International Molecular Genetic Study of Autism Consortium (IMGSAC)

Studying the epigenome using next generation sequencing

JOURNAL ARTICLE published 1 November 2011 in Journal of Medical Genetics

Authors: C. S. Ku | N. Naidoo | M. Wu | R. Soong

Intermediate C9orf72 alleles in neurological disorders: does size really matter?

JOURNAL ARTICLE published September 2017 in Journal of Medical Genetics

Authors: Adeline S L Ng | Eng-King Tan

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR

JOURNAL ARTICLE published 1 April 2011 in Journal of Medical Genetics

Authors: M. B. Sheridan | T. W. Hefferon | N. Wang | C. Merlo | C. Milla | D. Borowitz | E. D. Green | P. J. Mogayzel | G. R. Cutting

A missense mutation in both hMSH2 andAPC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening

JOURNAL ARTICLE published 1 October 1999 in Journal of Medical Genetics

Authors: Z. Q. YUAN | N. WONG | W. D. FOULKES | L. ALPERT | F. MANGANARO | C. ANDREUTTI-ZAUGG | R. IGGO | K. ANTHONY | E. HSIEH | M. REDSTON | L. PINSKY | M. TRIFIRO | P. H. GORDON | D. LASKO

Next generation diagnostics of cystic fibrosis andCFTR-related disorders by targeted multiplex high-coverage resequencing ofCFTR

JOURNAL ARTICLE published July 2013 in Journal of Medical Genetics

Authors: D Trujillano | M D Ramos | J González | C Tornador | F Sotillo | G Escaramis | S Ossowski | L Armengol | T Casals | X Estivill

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

JOURNAL ARTICLE published 1 January 2011 in Journal of Medical Genetics

Authors: T. Furuichi | J. Dai | T.-J. Cho | S. Sakazume | M. Ikema | Y. Matsui | G. Baynam | T. Nagai | N. Miyake | N. Matsumoto | H. Ohashi | S. Unger | A. Superti-Furga | O.-H. Kim | G. Nishimura | S. Ikegawa

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

JOURNAL ARTICLE published 1 February 2010 in Journal of Medical Genetics

Authors: I. Gohring | A. Tagariello | S. Endele | C. C. Stolt | M. Ghassibe | M. Fisher | C. T. Thiel | U. Trautmann | M. Vikkula | A. Winterpacht | D. R. FitzPatrick | A. Rauch

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

JOURNAL ARTICLE published May 2021 in Journal of Medical Genetics

Research funded by Natural Science Foundation of Jiangxi Province (No. 20161BAB215192) | National Natural Science Foundation of China (No. 81571220) | National Key Research and Development Program of China (No. 2016YFC0901505) | Peking University Medicine Seed Fund for Interdisciplinary Research supported by the Fundamental Research Funds for the Central Universities (No. BMU2017MX003,No. BMU2018MX001) | Beijing key laboratory of molecular diagnosis and study on pediatric genetic diseases (No. Z141107004414036, BZ0317)

Authors: Yanbin Fan | Dandan Tan | Danyu Song | Xu Zhang | Xingzhi Chang | Zhaoxia Wang | Cheng Zhang | Sophelia Hoi-Shan Chan | Qixi Wu | Liwen Wu | Shuang Wang | Hui Yan | Lin Ge | Haipo Yang | Bing Mao | Carsten Bönnemann | Jingying Liu | Suxia Wang | Yun Yuan | Xiru Wu | Hong Zhang | Hui Xiong

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

JOURNAL ARTICLE published April 2024 in Journal of Medical Genetics

Research funded by NIHR Cambridge Biomedical Research Centre (NIHR203312) | Cancer Research UK (C61296/A27223)

Authors: Sophie Allen | Lucy Loong | Alice Garrett | Bethany Torr | Miranda Durkie | James Drummond | Alison Callaway | Rachel Robinson | George J Burghel | Helen Hanson | Joanne Field | Trudi McDevitt | Terri P McVeigh | Tina Bedenham | Christopher Bowles | Kirsty Bradshaw | Claire Brooks | Samantha Butler | Juan Carlos Del Rey Jimenez | Lorraine Hawkes | Victoria Stinton | Suzanne MacMahon | Martina Owens | Sheila Palmer-Smith | Kenneth Smith | James Tellez | Mikel Valganon-Petrizan | Erik Waskiewicz | Michael Yau | Diana M Eccles | Marc Tischkowitz | Shilpi Goel | Fiona McRonald | Antonis C Antoniou | Eva Morris | Steven Hardy | Clare Turnbull

Next generation of free? Points to consider when navigating sponsored genetic testing

JOURNAL ARTICLE published April 2024 in Journal of Medical Genetics

Authors: Kirsten Bartels | Samantha Afonso | Lindsay Brown | Claudia Carriles | Raymond Kim | Joanna Lazier | Saadet Mercimek-Andrews | Tanya N Nelson | Ian Stedman | Emily Thain | Rachel Vanneste | Lauren Chad

Familial Alzheimer’s disease associated with heterozygousNPC1mutation

JOURNAL ARTICLE published April 2024 in Journal of Medical Genetics

Research funded by Alzheimer's Association (ADSF-21-831376-C,ADSF-21-831377-C,ADSF-21-831381-C) | Alzheimer Drug Discovery Foundation (ADDF), USA (201809-2016862) | European Research Council (101053962,681712,ALFGBG-71320) | Joint Programme (JPND2021-00694) | European Union (860197) | Hjärnfonden, Sweden (FO2022-0270) | UCL (UKDRI-1003) | Italian Ministry of Health (Grant RC2023 and RC 5×1000)

Authors: Diego Lopergolo | Silvia Bianchi | Gian Nicola Gallus | Sara Locci | Barbara Pucci | Valerio Leoni | Daniele Gasparini | Elisa Tardelli | Andrea Chincarini | Stelvio Sestini | Filippo Maria Santorelli | Henrik Zetterberg | Nicola De Stefano | Andrea Mignarri

Identification of quantitative trait loci for murine autoimmune pancreatitis

JOURNAL ARTICLE published 1 August 2011 in Journal of Medical Genetics

Authors: F. Asghari | B. Fitzner | S.-A. Holzhuter | H. Nizze | A. de Castro Marques | S. Muller | S. Moller | S. M. Ibrahim | R. Jaster

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

JOURNAL ARTICLE published 1 February 2010 in Journal of Medical Genetics

Authors: R. A. Kumar | J. Sudi | T. D. Babatz | C. W. Brune | D. Oswald | M. Yen | N. J. Nowak | E. H. Cook | S. L. Christian | W. B. Dobyns

Intellectual disability syndrome associated with a homozygous founder variant inSGSM3in Ashkenazi Jews

JOURNAL ARTICLE published 13 October 2023 in Journal of Medical Genetics

Authors: Rivka Birnbaum | Shlomit Ezer | Nava Shaul Lotan | Avital Eilat | Keren Sternlicht | Lilach Benyamini | Orit Reish | Tzipora Falik-Zaccai | Gali Ben-Gad | Raya Rod | Reeval Segel | Katherine Kim | Barabra Burton | Catherine E Keegan | Mallory Wagner | Lindsay B Henderson | Nofar Mor | Ortal Barel | Yoel Hirsch | Vardiella Meiner | Orly Elpeleg | Tamar Harel | Hagar Mor-Shakad

Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma

JOURNAL ARTICLE published November 2021 in Journal of Medical Genetics

Research funded by KWF Kankerbestrijding (UL 2015-7511)

Authors: Thomas P Potjer | Tara W J van der Grinten | Inge M M Lakeman | Sander H Bollen | Mar Rodríguez-Girondo | Mark M Iles | Jennifer H Barrett | Lambertus A Kiemeney | Nelleke A Gruis | Christi J van Asperen | Nienke van der Stoep

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

JOURNAL ARTICLE published 1 November 2011 in Journal of Medical Genetics

Authors: S. Mercier | C. Dubourg | N. Garcelon | B. Campillo-Gimenez | I. Gicquel | M. Belleguic | L. Ratie | L. Pasquier | P. Loget | C. Bendavid | S. Jaillard | L. Rochard | C. Quelin | V. Dupe | V. David | S. Odent